E-LIB Suche - Ergebnisse für: Ziegler, Shira G.

1

Inborn errors of amino acid metabolism – from underlying pa..:

Ziegler, Shira G. ; Kim, Jiyoung ; Ehmsen, Jeffrey T..
Disease Models & Mechanisms. 16 (2023) 11 - p. , 2023

2

Diagnosis and discovery: Insights from the NIH Undiagnosed ..:

Montano, Carolina ; Cassini, Thomas ; Ziegler, Shira G....
Journal of Inherited Metabolic Disease. 45 (2022) 5 - p. 907-918 , 2022

Link: https://doi.org/10.1002/..

3

Response to Stern et al:

Ziegler, Shira G. ; Ferreira, Carlos R.
Genetics in Medicine. 23 (2021) 10 - p. 2008 , 2021

Link: https://doi.org/10.1038/..

4

Toward precision medicine in vascular connective tissue dis..:

Ziegler, Shira G. ; MacCarrick, Gretchen ; Dietz, Harry C.
American Journal of Medical Genetics Part A. 185 (2021) 11 - p. 3340-3349 , 2021

Link: https://doi.org/10.1002/..

5

Prospective phenotyping of long-term survivors of generaliz..:

Ferreira, Carlos R. ; Hackbarth, Mary E. ; Ziegler, Shira G....
Genetics in Medicine. 23 (2021) 2 - p. 396-407 , 2021

Link: https://doi.org/10.1038/..

6

A comprehensive, multidisciplinary, precision medicine appr..:

Gochuico, Bernadette R. ; Ziegler, Shira G. ; Ten, Nicholas S....
Translational Research. 215 (2020) - p. 31-40 , 2020

Link: https://doi.org/10.1016/..

7

Disorders and Mechanisms of Ectopic Calcification:

, In: Genetics of Bone Biology and Skeletal Disease,

Ziegler, Shira G. ; Gahl, William A. ; Ferreira, Carlos R. - p. 571-595 , 2018

Link: https://doi.org/10.1016/..

8

List of Contributors:

, In: Genetics of Bone Biology and Skeletal Disease,

Ackert-Bicknell, Cheryl ; Agarwal, Sunita K. ; Albagha, Omar M.E.... - p. xi-xiii , 2018

Link: https://doi.org/10.1016/..

9

Neurologic involvement in patients with atypical Chediak-Hi..:

Introne, Wendy J. ; Westbroek, Wendy ; Groden, Catherine A....
Neurology. 88 (2017) 7 - p. , 2017

Link: https://doi.org/10.1212/..

10

Treatment of hypophosphatemic rickets in generalized arteri..:

Ferreira, Carlos R. ; Ziegler, Shira G. ; Gupta, Ashutosh...
American Journal of Medical Genetics Part A. 170 (2016) 5 - p. 1308-1311 , 2016

Link: https://doi.org/10.1002/..

11

Neurologic involvement in patients with atypical Chediak-Hi..:

Introne, Wendy J. ; Westbroek, Wendy ; Cullinane, Andrew R....
Neurology. 86 (2016) 14 - p. 1320-1328 , 2016

Link: https://doi.org/10.1212/..

12

The phenotype of the musculocontractural type of Ehlers‐Dan..:

Janecke, Andreas R. ; Li, Ben ; Boehm, Manfred...
American Journal of Medical Genetics Part A. 170 (2015) 1 - p. 103-115 , 2015

Link: https://doi.org/10.1002/..

13

Reply to Professor Lefthériotis et al:

Markello, Thomas C. ; St. Hilaire, Cynthia ; Ziegler, Shira G....
Molecular Genetics and Metabolism. 103 (2011) 3 - p. 305 , 2011

Link: https://doi.org/10.1016/..

14

Vascular pathology of medial arterial calcifications in NT5..:

Markello, Thomas C. ; Pak, Laura K. ; St. Hilaire, Cynthia...
Molecular Genetics and Metabolism. 103 (2011) 1 - p. 44-50 , 2011

Link: https://doi.org/10.1016/..

15

Cellular and clinical report of new Griscelli syndrome type..:

Westbroek, Wendy ; Klar, Aharon ; Cullinane, Andrew R....
Pigment Cell & Melanoma Research. 25 (2011) 1 - p. 47-56 , 2011

Link: https://doi.org/10.1111/..